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Optic atrophy 14(OPA14)

MedGen UID:
1851745
•Concept ID:
C5882708
•
Disease or Syndrome
Synonym: OPA14
 
Gene (location): MIEF1 (22q13.1)
 
Monarch Initiative: MONDO:0957824
OMIM®: 620550

Definition

Optic atrophy-14 (OPA14) is characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Optic discs are pale and excavated, and there is loss of the retinal nerve fiber layer on optical coherence tomography (Charif et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Mitochondrial structure and function adaptation in residual triple negative breast cancer cells surviving chemotherapy treatment.
Baek ML, Lee J, Pendleton KE, Berner MJ, Goff EB, Tan L, Martinez SA, Mahmud I, Wang T, Meyer MD, Lim B, Barrish JP, Porter W, Lorenzi PL, Echeverria GV
Oncogene 2023 Mar;42(14):1117-1131. Epub 2023 Feb 22 doi: 10.1038/s41388-023-02596-8. PMID: 36813854Free PMC Article
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.
Emperador S, López-Gallardo E, Hernández-Ainsa C, Habbane M, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E
Orphanet J Rare Dis 2019 Jun 21;14(1):150. doi: 10.1186/s13023-019-1128-z. PMID: 31226990Free PMC Article
The treatment of syphilis.
Rasmussen DH
Surv Ophthalmol 1969 Nov;14(3):184-97. PMID: 4902161

Recent clinical studies

Etiology

Papillomacular bundle defect (PMBD) in glaucoma patients with high myopia: frequency and risk factors.
Huh MG, Shin YI, Jeong Y, Kim YK, Jeoung JW, Park KH
Sci Rep 2023 Dec 11;13(1):21958. doi: 10.1038/s41598-023-48687-0. PMID: 38081858Free PMC Article
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P
Acta Ophthalmol 2019 Feb;97(1):e71-e76. Epub 2018 Sep 26 doi: 10.1111/aos.13817. PMID: 30259673
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum.
Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, Hendig D, Holz FG, Charbel Issa P
Invest Ophthalmol Vis Sci 2017 Dec 1;58(14):6159-6165. doi: 10.1167/iovs.17-22007. PMID: 29214314
Hereditary optic neuropathies.
Kerrison JB
Ophthalmol Clin North Am 2001 Mar;14(1):99-107. PMID: 11370575
Retained nuclei after cataract surgery.
Blodi BA, Flynn HW Jr, Blodi CF, Folk JC, Daily MJ
Ophthalmology 1992 Jan;99(1):41-4. doi: 10.1016/s0161-6420(92)32003-2. PMID: 1741137

Diagnosis

Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.
Morikawa S, Tanabe K, Kaneko N, Hishimura N, Nakamura A
Mamm Genome 2024 Mar;35(1):1-12. Epub 2024 Feb 13 doi: 10.1007/s00335-023-10028-x. PMID: 38351344
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Non-compressive disorders of the chiasm.
Purvin VA, Kawasaki A
Curr Neurol Neurosci Rep 2014 Jul;14(7):455. doi: 10.1007/s11910-014-0455-7. PMID: 24788948
Diagnosis and treatment of childhood mitochondrial diseases.
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515
Radiation optic neuropathy.
Brown GC, Shields JA, Sanborn G, Augsburger JJ, Savino PJ, Schatz NJ
Ophthalmology 1982 Dec;89(12):1489-93. doi: 10.1016/s0161-6420(82)34612-6. PMID: 7162793

Therapy

Clinical outcomes of treatment with idebenone in Leber's hereditary optic neuropathy in the Netherlands: A national cohort study.
van Everdingen JAM, Pott JWR, Bauer NJC, Krijnen AM, Lushchyk T, Wubbels RJ
Acta Ophthalmol 2022 Sep;100(6):700-706. Epub 2022 Apr 8 doi: 10.1111/aos.15153. PMID: 35394113
Bilateral Acute Retinal Necrosis: Clinical Features and Outcomes in a Multicenter Study.
Miserocchi E, Iuliano L, Fogliato G, Modorati G, Couto C, Schlaen A, Hurtado E, Llorenç V, Adan A, Bandello F
Ocul Immunol Inflamm 2019;27(7):1090-1098. Epub 2018 Jul 30 doi: 10.1080/09273948.2018.1501494. PMID: 30059636
Uveitis in Behçet's disease.
Nussenblatt RB
Int Rev Immunol 1997;14(1):67-79. doi: 10.3109/08830189709116845. PMID: 9203027
Retained nuclei after cataract surgery.
Blodi BA, Flynn HW Jr, Blodi CF, Folk JC, Daily MJ
Ophthalmology 1992 Jan;99(1):41-4. doi: 10.1016/s0161-6420(92)32003-2. PMID: 1741137
Radiation optic neuropathy.
Brown GC, Shields JA, Sanborn G, Augsburger JJ, Savino PJ, Schatz NJ
Ophthalmology 1982 Dec;89(12):1489-93. doi: 10.1016/s0161-6420(82)34612-6. PMID: 7162793

Prognosis

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Bilateral Acute Retinal Necrosis: Clinical Features and Outcomes in a Multicenter Study.
Miserocchi E, Iuliano L, Fogliato G, Modorati G, Couto C, Schlaen A, Hurtado E, Llorenç V, Adan A, Bandello F
Ocul Immunol Inflamm 2019;27(7):1090-1098. Epub 2018 Jul 30 doi: 10.1080/09273948.2018.1501494. PMID: 30059636
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.
Soares A, Mota Á, Fonseca S, Faria O, Brandão E, Falcão Dos Reis F, Gentil R, Guimarães S, Mendonça L
Ophthalmologica 2019;241(2):116-119. Epub 2018 Jul 27 doi: 10.1159/000490535. PMID: 30056456
Characteristics of a pediatric low-vision population.
de Carvalho KM, Minguini N, Moreira Filho DC, Kara-José N
J Pediatr Ophthalmol Strabismus 1998 May-Jun;35(3):162-5. doi: 10.3928/0191-3913-19980501-09. PMID: 9627878
Retained nuclei after cataract surgery.
Blodi BA, Flynn HW Jr, Blodi CF, Folk JC, Daily MJ
Ophthalmology 1992 Jan;99(1):41-4. doi: 10.1016/s0161-6420(92)32003-2. PMID: 1741137

Clinical prediction guides

The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Crouzier L, Danese A, Yasui Y, Richard EM, Liévens JC, Patergnani S, Couly S, Diez C, Denus M, Cubedo N, Rossel M, Thiry M, Su TP, Pinton P, Maurice T, Delprat B
Sci Transl Med 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. PMID: 35138910Free PMC Article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P
Acta Ophthalmol 2019 Feb;97(1):e71-e76. Epub 2018 Sep 26 doi: 10.1111/aos.13817. PMID: 30259673
Bilateral Acute Retinal Necrosis: Clinical Features and Outcomes in a Multicenter Study.
Miserocchi E, Iuliano L, Fogliato G, Modorati G, Couto C, Schlaen A, Hurtado E, Llorenç V, Adan A, Bandello F
Ocul Immunol Inflamm 2019;27(7):1090-1098. Epub 2018 Jul 30 doi: 10.1080/09273948.2018.1501494. PMID: 30059636

Recent systematic reviews

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.
Yuan J, Zhao J, Ye C, Pang L, Zhang X, Luk A, Du Y, Fan KY, Zhang X, Li B, Chen C
Biomed Res Int 2023;2023:1107866. Epub 2023 Jan 24 doi: 10.1155/2023/1107866. PMID: 36743514Free PMC Article
Prevalence of Myopic Macular Features in Dutch Individuals of European Ancestry With High Myopia.
Haarman AEG, Tedja MS, Brussee C, Enthoven CA, van Rijn GA, Vingerling JR, Keunen JEE, Boon CJF, Geerards AJM, Luyten GPM, Verhoeven VJM, Klaver CCW
JAMA Ophthalmol 2022 Feb 1;140(2):115-123. doi: 10.1001/jamaophthalmol.2021.5346. PMID: 34913968Free PMC Article
Acupuncture for glaucoma.
Law SK, Wang L, Li T
Cochrane Database Syst Rev 2020 Feb 7;2(2):CD006030. doi: 10.1002/14651858.CD006030.pub4. PMID: 32032457Free PMC Article
Acupuncture for glaucoma.
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article

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